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bioinformatics-variant-calling-soplisted

Consistent callers, filters, and annotation sources so variant lists compare across runs.
aniruddhaadak80/skills · ★ 0 · AI & Automation · score 68
Install: claude install-skill aniruddhaadak80/skills
# Standardize variant calling and annotation > Consistent callers, filters, and annotation sources so variant lists compare across runs. **Track:** 🧬 Biotech & Pharma · **Domain:** Bioinformatics · **Level:** advanced · **~50 min** **Who this is for:** Bioinformaticians, Lab Scientists, Regulatory Affairs, Genetic Engineers, Clinical Data Managers ## When to Use This Skill Consistent callers, filters, and annotation sources so variant lists compare across runs. Use it whenever a matching task appears in conversation — the agent loads these instructions on demand. ## Steps 1. Fix caller versions and filter thresholds in writing before processing 2. Normalize representations (left-align, split multiallelics) consistently 3. Annotate against versioned databases recording exact release dates 4. Apply depth/quality filters appropriate to assay type 5. Validate a truth-set sample each run before trusting outputs 6. Store VCFs with full provenance: sample, pipeline hash, references ## Common Pitfalls - Annotation databases drifting between analyses - Filter tuning per-run destroying comparability ## Commands **Install with skills CLI** ```bash npx skills add aniruddhaadak80/skills --skill bioinformatics-variant-calling-sop ``` **Install globally** ```bash npx skills add aniruddhaadak80/skills --skill bioinformatics-variant-calling-sop -g ``` --- Part of [aniruddhaadak80/skills](https://github.com/aniruddhaadak80/skills) · Browse all at https://skills.sh/aniruddhaadak8